The 1000 Genomes Project,
an initiative to sequence the genetic code of 2,500 people across five
continents, has now successfully sequenced over 1,000 people's genomes.

On 12 and 13 July, the project's
team met with the wider genomics community at the University of Michigan, Ann
Arbor, USA, to discuss the progression, applications and challenges of the
project, as well as future directions for community sequencing.

This year's meeting was
an enjoyable and engaging event, providing an overview of the scientific
advances allowed by the project, including analysis, community resources and
research applications. There was also a useful discussion of what to prioritise
in terms of future requirements and next steps.

Talks by a host of
leading geneticists and statisticians included Professors Gonçalo Abecasis, who
organised the meeting, Richard Durbin (Wellcome Trust Sanger Institute), Gil
McVean (University of Oxford) and Nancy Cox (University of Chicago).

The 1000 Genomes Project offers
an unprecedented opportunity to chart genetic variation between individuals. Because
the data is being made freely available, ideas can be shared and numerous
researchers have been instrumental in solving technical and analytical
challenges. Despite not being completely finished, this resource has become
indispensable as a reference panel of variants for genetic studies.

Professor Gonçalo Abecasis highlighted
other important contributions of the project, notably the creation
of a standardised data format to allow the results to be stored and shared more
easily and the development of methods and tools for analysing this type of
data.

He added that collaboration between three groups involved in
the analysis, from the Broad Institute in Boston, the University of Michigan
and Wellcome Trust Sanger Institute, Cambridge, resulted in an overall
reduction in error rates of 40 percent.

The meeting covered various
methods used for sequence analysis, their applications and potential future
uses. One of the remaining challenges discussed was that the human genome
reference, which is used to align genetic sequences to their correct position
in the genome, is only 95 percent complete. This means that an individual's
genetic code can't be completed using just this reference. Improvements are
therefore needed to fill this gap in the genetic sequence.

Another challenge is to
accurately assess complicated mutations – current techniques are very good at
identifying single changes in the letters making up the genetic code, but not
as efficient for more complex alterations.

Further discussions
involved using large scale sequencing studies for understanding the genetic
basis of human diseases, including schizophrenia. Others talked about using
data from the project to
help genetic studies of conditions such as Crohn's disease and type II diabetes.

Professor Cisca Wijmenga
talked about the influence of the 1000 Genomes on the Genomes of the
Netherlands project, in terms of development of techniques and tools. However,
she noted that 40 percent of the genetic variations identified in this project
were not present in the 1000 Genomes' data, bringing home the importance of
sequencing additional populations.

The meeting closed with a
discussion of the future of large scale sequencing studies, which allowed the
audience to contribute their own thoughts and what they think should take
priority. The wish lists of many speakers were nicely summarised by Professor Durbin
as: sequencing more individuals from different ancestry; achieving greater
accuracy and more complete genomes by improving analysis; and eventually
sequencing more individuals more thoroughly to improve data quality.

He added that we now need ideas
and vision, and new people who will take these challenges on.

The #1000genomes Twitter
coverage of the meeting has been Storfied here, and more information on the
1000 Genomes Project is available here. The meeting was sponsored
by Illumina, Complete Genomics and Roche.

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